Canonical Allele Identifier: CA382619321

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965634C>G (hg19) ; chr11:g.112094910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094910C>G , CM000673.2:g.112094910C>G	GRCh38
NC_000011.9:g.111965634C>G , CM000673.1:g.111965634C>G	GRCh37
NC_000011.8:g.111470844C>G	NCBI36
NG_012337.2:g.13064C>G
NG_012337.3:g.13064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*159C>G	ENSP00000432946.2:n.*159C>G
ENST00000534010.2:c.314+5899C>G	ENSP00000433202.2:n.314+5899C>G
ENST00000375549.8:c.420C>G MANE Select	ENSP00000364699.3:p.Cys140Trp
ENST00000528021.6:c.314+5899C>G	ENSP00000432465.1:n.314+5899C>G
ENST00000375549.7:c.420C>G	ENSP00000364699.3:p.Cys140Trp
ENST00000525291.5:c.303C>G	ENSP00000436669.1:p.Cys101Trp
ENST00000525987.5:n.319+5899C>G
ENST00000526592.5:c.*118C>G	ENSP00000432005.1:n.*118C>G
ENST00000528021.5:c.314+5899C>G	ENSP00000432465.1:n.314+5899C>G
ENST00000528048.5:c.*17C>G	ENSP00000436217.1:n.*17C>G
ENST00000528182.5:c.*17C>G	ENSP00000435475.1:n.*17C>G
ENST00000530923.5:c.464C>G
ENST00000531744.5:c.314+5899C>G	ENSP00000456957.1:n.314+5899C>G
ENST00000532699.1:c.314+5899C>G	ENSP00000456434.1:n.314+5899C>G
ENST00000534010.1:c.145+5899C>G
NM_001276503.1:c.*17C>G	NP_001263432.1:n.*17C>G
NM_001276504.1:c.303C>G	NP_001263433.1:p.Cys101Trp
NM_001276506.1:c.*118C>G	NP_001263435.1:n.*118C>G
NM_003002.3:c.420C>G	NP_002993.1:p.Cys140Trp
NR_077060.1:n.558C>G
NM_003002.4:c.420C>G MANE Select	NP_002993.1:p.Cys140Trp
NM_001276503.2:c.*17C>G	NP_001263432.1:n.*17C>G
NM_001276504.2:c.303C>G	NP_001263433.1:p.Cys101Trp
NM_001276506.2:c.*118C>G	NP_001263435.1:n.*118C>G
NR_077060.2:n.509C>G